title: Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients.
authors.affiliation: Department of Biochemistry, Faculty of Dentistry, Tokyo Medical and Dental University, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Goseki-Sone
authors.forename: H
authors.initials: H
authors.lastname: Orimo
authors.forename: T
authors.initials: T
authors.lastname: Iimura
authors.forename: Y
authors.initials: Y
authors.lastname: Takagi
authors.forename: H
authors.initials: H
authors.lastname: Watanabe
authors.forename: K
authors.initials: K
authors.lastname: Taketa
authors.forename: S
authors.initials: S
authors.lastname: Sato
authors.forename: H
authors.initials: H
authors.lastname: Mayanagi
authors.forename: T
authors.initials: T
authors.lastname: Shimada
authors.forename: S
authors.initials: S
authors.lastname: Oida
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000469:Alkaline Phosphatase / Q000235:genetics*; D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007014:Hypophosphatasia / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D004247:DNA; D000469:Alkaline Phosphatase